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Myofibrillar myopathies are genetically heterogeneous. We present a sporadic case of an 8-year-old boy with unusual combination of congenital skeletal muscle myopathy, cataract and poly/syndactyly. Muscle pathology revealed a mild myopathic picture with hyaline plaques, showing dark green staining in modified trichrome reaction, and strong immunoreactivity for αB-crystallin, desmin and dystrophin...
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